ClinVar Miner

List of variants in gene CACNA1A reported as pathogenic by Centogene AG - the Rare Disease Company

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1
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HGVS dbSNP gnomAD frequency
NM_001127222.2(CACNA1A):c.4043G>A (p.Arg1348Gln) rs1057520918

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